Weihl CC - Search Results

1

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.

Bengoechea R, Pittman SK, Tuck EP, True HL, Weihl CC. Bengoechea R, et al. Among authors: weihl cc. Hum Mol Genet. 2015 Dec 1;24(23):6588-602. doi: 10.1093/hmg/ddv363. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362252 Free PMC article.

2

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.

Weihl CC, Dalal S, Pestronk A, Hanson PI. Weihl CC, et al. Hum Mol Genet. 2006 Jan 15;15(2):189-99. doi: 10.1093/hmg/ddi426. Epub 2005 Dec 1. Hum Mol Genet. 2006. PMID: 16321991

3

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.

Weihl CC, Miller SE, Hanson PI, Pestronk A. Weihl CC, et al. Hum Mol Genet. 2007 Apr 15;16(8):919-28. doi: 10.1093/hmg/ddm037. Epub 2007 Feb 28. Hum Mol Genet. 2007. PMID: 17329348

4

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Gurnett CA, et al. Among authors: weihl cc. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2. Hum Mol Genet. 2010. PMID: 20045868 Free PMC article.

5

An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors.

Fuentealba RA, Marasa J, Diamond MI, Piwnica-Worms D, Weihl CC. Fuentealba RA, et al. Among authors: weihl cc. Hum Mol Genet. 2012 Feb 1;21(3):664-80. doi: 10.1093/hmg/ddr500. Epub 2011 Nov 3. Hum Mol Genet. 2012. PMID: 22052286 Free PMC article.

6

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Harms MB, et al. Among authors: weihl cc. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14. Ann Neurol. 2012. PMID: 22334415 Free PMC article.

7

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.

Ching JK, Elizabeth SV, Ju JS, Lusk C, Pittman SK, Weihl CC. Ching JK, et al. Among authors: weihl cc. Hum Mol Genet. 2013 Mar 15;22(6):1167-79. doi: 10.1093/hmg/dds524. Epub 2012 Dec 18. Hum Mol Genet. 2013. PMID: 23250913 Free PMC article.

8

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.

Udan-Johns M, Bengoechea R, Bell S, Shao J, Diamond MI, True HL, Weihl CC, Baloh RH. Udan-Johns M, et al. Among authors: weihl cc. Hum Mol Genet. 2014 Jan 1;23(1):157-70. doi: 10.1093/hmg/ddt408. Epub 2013 Aug 19. Hum Mol Genet. 2014. PMID: 23962724 Free PMC article.

9

Increased autophagy accelerates colchicine-induced muscle toxicity.

Ching JK, Ju JS, Pittman SK, Margeta M, Weihl CC. Ching JK, et al. Among authors: weihl cc. Autophagy. 2013 Dec;9(12):2115-25. doi: 10.4161/auto.26150. Autophagy. 2013. PMID: 24184927

10

Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.

Stein KC, Bengoechea R, Harms MB, Weihl CC, True HL. Stein KC, et al. Among authors: weihl cc. J Biol Chem. 2014 Jul 25;289(30):21120-30. doi: 10.1074/jbc.M114.572461. J Biol Chem. 2014. PMID: 24920671 Free PMC article.

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